Amplifiers co-translationally enhance CFTR biosynthesis via PCBP1-mediated regulation of CFTR mRNA

Cystic fibrosis (CF) is a life-shortening recessive disorder caused by mutations in both alleles of the cystic fibrosis transmembrane conductance regulator (CFTR) gene [1]. CFTR codes for an ion channel that mediates chloride transport across epithelial cell membranes. Mutations resulting in CFTR dysfunction cause chronic obstructive lung disease, intestinal obstruction syndromes, liver dysfunction, exocrine and endocrine pancreatic dysfunction, and male infertility [1,2]. CFTR is a complex, multidomain, membrane-spanning protein that undergoes highly regulated folding and trafficking post-biosynthesis to be functionally mature within epithelial cells [3].
Source: Journal of Cystic Fibrosis - Category: Respiratory Medicine Authors: Tags: Original Article Source Type: research

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Purpose of review Genetic testing in male infertility is an essential part of the process of diagnosis. Genetic abnormalities, such as Y-chromosome microdeletion, chromosomal abnormalities and mutations for cystic fibrosis, can all negatively impact a male's fertility and can be tested for during a fertility evaluation. Both Y-chromosome microdeletion and chromosomal abnormalities increase in prevalence as sperm concentrations decrease, and azoospermic men have the greatest frequency of genetic abnormalities. Recent findings These genetic abnormalities can also be found in oligospermic men; however, on the basis of se...
Source: Current Opinion in Urology - Category: Urology & Nephrology Tags: GENDER MEDICINE, INFERTILITY AND ERECTILE FUNCTION: Edited by Ryan Flannigan and Ranjith Ramasamy Source Type: research
Male reproduction is a complex process, and numerous medical conditions have the potential to alter spermatogenesis. In addition, male factor infertility may be a biomarker for future health. In the present review, we discuss the current literature regarding the association between systemic diseases and fertility, which may impact clinical outcomes or semen parameters. A number of conditions that have systemic consequences were identified, including genetic (e.g., cystic fibrosis, DNA mismatch repair alterations), obesity, psychological stress, exogenous testosterone, and a variety of common medications.
Source: Fertility and Sterility - Category: Reproduction Medicine Authors: Tags: Views and reviews Source Type: research
Male factor infertility is an important clinical problem whose most severe phenotype, severe oligospermia or azoospermia, has a variety of genetic causes. Some, like Klinefelter syndrome or cystic fibrosis, are well understood, but most are still unknown, and Y chromosome microdeletions only explain a fraction of the remaining cases. In consanguineous and nonconsanguineous families, whole exome sequencing (WES) has been successfully used to identify likely causal mutations in severe oligospermia (1, 2).
Source: Fertility and Sterility - Category: Reproduction Medicine Authors: Tags: Reflections Source Type: research
Abstract The cystic fibrosis transmembrane conductance regulator (CFTR) is an anion channel responsible for the direct transport of bicarbonate and chloride. CFTR-dependent ionic transport is crucial for pH regulation and fluid homeodynamics among epithelial surfaces. Particularly, CFTR performs an essential role in the male reproductive tract, which requires a tight regulation of water and electrolytes in order to produce healthy spermatozoa. The absence or malfunction of CFTR results in cystic fibrosis, the most common lethal disease among Caucasians, that is characterized by an impaired fluid and ionic homeosta...
Source: Vitamins and Hormones - Category: Endocrinology Authors: Tags: Vitam Horm Source Type: research
AbstractCongenital absence of the vas deferens (CAVD) may have various clinical presentations depending on whether it is bilateral (CBAVD) or unilateral (CUAVD), complete or partial, and associated or not with other abnormalities of the male urogenital tract. CBAVD is usually discovered in adult men either during the systematic assessment of cystic fibrosis or otherCFTR-related conditions, or during the exploration of isolated infertility with obstructive azoospermia. The prevalence of CAVDs in men is reported to be approximately 0.1%. However, this figure is probably underestimated, because unilateral forms of CAVD in asy...
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research
ConclusionsOur results indicate that men with CUAVD mainly display oligozoospermia or normozoospermia and that they were previously fertile. They clearly confirm, first, thatCFTR testing is recommended in CUAVD men and it should be mandatory for those with normal kidneys; and, second, that TRUS is needed for the diagnosis of CUAVD. As CUAVD may be present whatever the sperm count, biological warnings are represented by semen volume and seminal epididymal markers, and clinical warnings by surgical histories of undescended testes or inguinal hernia.
Source: Andrology - Category: Urology & Nephrology Authors: Tags: ORIGINAL ARTICLE Source Type: research
Cystic fibrosis (CF), the most common autosomal recessive disease in Caucasians, is caused by mutations of the CF transmembrane regulator protein (CFTR) gene. Loss of function mutations of CFTR-mediated chloride and bicarbonate transport in the apical membrane of epithelial cells lead to impaired mucociliary clearance and accumulation of mucus in various organs, resulting in chronic airway disease, pancreatic insufficiency, malabsorption, biliary cirrhosis, and infertility [1 –2]. Individuals with CF are classically at risk for malnutrition, which is related to inadequate intake, increased energy expenditure, and malabsorption [3].
Source: Journal of Cystic Fibrosis - Category: Respiratory Medicine Authors: Tags: Original Article Source Type: research
ConclusionOur findings may broaden the mutation spectrum ofCFTR in CAVD patients and provide more familial evidence that the combination of a mild variant and a severe variant intrans ofCFTR can cause vas deferens malformation.
Source: Journal of Assisted Reproduction and Genetics - Category: Reproduction Medicine Source Type: research
Semin Respir Crit Care Med DOI: 10.1055/s-0039-1697961The diagnosis of cystic fibrosis (CF) has traditionally relied on the presence of clinical features of the disease. Today, diagnosis through newborn screening (NBS) is becoming the standard of modern CF care. CF NBS programs can identify CF prior to clinical presentation, but for the advantages of an early diagnosis to accrue a scrupulous system must be in place to ensure all steps in the program are performing. As we move rapidly into the era of CF transmembrane conductance regulator (CFTR) protein modulators, the opportunity to start a presymptomatic infant, identifie...
Source: Seminars in Respiratory and Critical Care Medicine - Category: Respiratory Medicine Authors: Tags: Review Article Source Type: research
Abstract The diagnosis of cystic fibrosis (CF) has traditionally relied on the presence of clinical features of the disease. Today, diagnosis through newborn screening (NBS) is becoming the standard of modern CF care. CF NBS programs can identify CF prior to clinical presentation, but for the advantages of an early diagnosis to accrue a scrupulous system must be in place to ensure all steps in the program are performing. As we move rapidly into the era of CF transmembrane conductance regulator (CFTR) protein modulators, the opportunity to start a presymptomatic infant, identified through CF NBS, on these agents of...
Source: Respiratory Care - Category: Respiratory Medicine Authors: Tags: Semin Respir Crit Care Med Source Type: research
More News: Chloride | Cystic Fibrosis | Genetics | Infertility | Liver | Pancreas | Reproduction Medicine | Respiratory Medicine | Urology & Nephrology